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Bardet-Biedl syndrome 4 protein

Below are the list of possible Bardet-Biedl syndrome 4 protein products. If you cannot find the target and/or product is not available in our catalog, please click here to contact us and request the product or submit your request for custom elisa kit production, custom recombinant protein production or custom antibody production. Custom ELISA Kits, Recombinant Proteins and Antibodies can be designed, manufactured and produced according to the researcher's specifications.

Bardet-Biedl syndrome 4 protein

 Bardet-Biedl syndrome 4 protein ELISA Kit
 Bardet-Biedl syndrome 4 protein Recombinant
 Bardet-Biedl syndrome 4 protein Antibody
BBS4: May be required for the dynein-mediated transport of pericentriolar proteins to the centrosome. Required for microtubule anchoring at the centrosome but not for microtubule nucleation. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the ba
sal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. Defects in BBS4 are the cause of Bardet-Biedl syndrome type 4 (BBS4). Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, autosomal recessive disorder characterized by usually severe pigmentary retinopathy, early onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. A relatively high incidence of BBS is found in the mixed Arab populations of Kuwait and in Bedouin tribes throughout the Middle East, most likely due to the high rate of consaguinity in these populations and a founder effect. Belongs to the BBS4 family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Adaptor/scaffold; Cell development/differentiation; Microtubule-binding

Chromosomal Location of Human Ortholog: 15q22.3-q23

Cellular Component: centriole; centrosome; cilium; cytosol; pericentriolar material

Molecular Function: alpha-tubulin binding; beta-tubulin binding; microtubule motor activity; protein binding

Biological Process: adult behavior; brain morphogenesis; centrosome organization and biogenesis; cerebral cortex development; cytokinesis after mitosis; dendrite development; fat cell differentiation; heart looping; hippocampus development; intracellular transport; maintenance of protein localization in nucleus; melanosome transport; microtubule cytoskeleton organization and biogenesis; neural tube closure; photoreceptor cell maintenance; positive regulation of flagellum biogenesis; protein localization in organelle; regulation of cytokinesis; regulation of lipid metabolic process; retinal homeostasis; retinal rod cell development; sensory perception of smell; sensory processing; spermatid development; striatum development

Disease: Bardet-biedl Syndrome 1; Bardet-biedl Syndrome 4
 BBS4 Recombinant
 BBS4 Antibody
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Bardet-Biedl syndrome 4 protein homolog

 Bardet-Biedl syndrome 4 protein homolog ELISA Kit
 Bardet-Biedl syndrome 4 protein homolog Recombinant
 Bardet-Biedl syndrome 4 protein homolog Antibody
Component of the BBSome complex (). The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia (). The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function (). Required for proper BBSome complex assembly and its ciliary localization (). May be required for microtubule anchoring at t
he centrosome but not for microtubule nucleation (). May be required for the dynein-mediated transport of pericentriolar proteins to the centrosome (). Required, redundantly with bbs-5, for cilia biogenesis and both the assembly and movement of intraflagellar transport proteins along the ciliary axoneme (PubMed:22922713, PubMed:26150102). Plays a role in the removal of degraded mechanosensory receptors within the cilia (PubMed:26150102).
 bbs-4 ELISA Kit
 bbs-4 Recombinant
 bbs-4 Antibody
 F58A4.14 ELISA Kit
 F58A4.14 Recombinant
 F58A4.14 Antibody
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